Rare Disease Database

Degos Disease

NORD gratefully acknowledges Rachel Vale, BSc, University of Ottawa and Noah Scheinfeld, MD, Assistant Clinical Professor of Dermatology, Columbia University, for assistance in the preparation of this report.

Synonyms of Degos Disease

Degos-Kohlmeier disease

Degos syndrome

Kohlmeier-Degos disease

malignant atrophic papulosis

MAP

papulosis atrophicans maligna

General Discussion

Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last for a period of time ranging from weeks to years. In some individuals, Degos disease will be limited to the skin (benign cutaneous Degos disease); other individuals will also develop symptoms affecting other organ systems (systemic Degos disease). Systemic Degos disease is most frequently characterized by lesions in the small intestine, but other organs are also affected. Major symptoms may include abdominal pain, diarrhea, and/or weight loss. The systemic form of Degos disease can cause life-threatening complications such as perforated bowels leading to inflammation of the abdominal cavity (peritonitis). The exact cause of Degos disease is unknown.

Many researchers caution that statistics concerning Degos disease are inaccurate because many individuals go undiagnosed and most medical reports disproportionately discuss the more serious systemic form. It is important to note that some individuals only develop skin lesions (which are not associated with life-threatening complications) and do not go on to develop systemic Degos disease. Affected individuals should talk to their physicians and medical team about their specific case and associated symptoms.

Signs & Symptoms

In most cases, the initial symptoms of Degos disease are distinct skin lesions or a rash. Affected individuals develop small elevated bumps or spots (papules) of varying shape, usually on the trunk and upper arms and upper legs. Initially, only a few lesions may be apparent. Eventually, 10-40 lesions may slowly develop and, in some cases, hundreds may develop. The palms, soles, and face are usually spared. The lesions may sometimes itch (pruritis). The lesions start as reddish or pink bumps and eventually the center degenerates (atrophies) such that older lesions have a reddish border with porcelain-white, atrophic centers.

In certain individuals, blood vessels in areas other than the skin eventually become involved which can result in serious complications. The specific organ systems affected and the severity of associated symptoms can vary greatly. Individuals who develop systemic Degos disease will not develop all of the symptoms discussed below.

The most common area affected by Degos disease outside of the skin is the gastrointestinal tract. Gastrointestinal involvement can occur anywhere from a few weeks to a few years after the skin lesions develop. In extremely rare cases, gastrointestinal involvement may precede the development of skin lesions.

When lesions form in the small intestines, they may cause abdominal pain, cramping, nausea, vomiting, diarrhea, bloating, constipation, and the passing of blood with bowel movements or vomiting up of blood. Some affected individuals may experience weakness, fatigue and weight loss from malabsorption. The intestinal lesions can tear or rupture (perforate) causing the contents of the intestines to leak into the abdominal cavity. This results in inflammation of the membranes lining the abdominal cavity (peritonitis), a life-threatening complication.

Some individuals with systemic Degos disease experience involvement of the central nervous system (CNS). Symptoms of CNS involvement vary depending upon the specific areas affected, but may include headaches, dizziness, seizures, paralysis (palsy) of cranial nerves, weakness of one side of the body (hemiparesis), strokes, and damage to small areas of cells in the brain due to blocked arteries (cerebral infarcts.) Nonspecific neurological symptoms such as memory loss or altered sensations may also occur.

Additional organ systems that can become involved include the eyes, heart, lungs, and kidneys. When the eyes are affected, individuals may develop double vision (diplopia), drooping of the eyelids (ptosis), clouding of the lenses of the eyes (cataracts), atrophy of the optic nerve, swelling of the optic nerve (papilledema), and loss of part of the field of vision (visual-field defects).

When the heart is affected, individuals may develop weakness, shortness of breath upon exertion, and chest pain. In some cases, inflammation of the sac-like membrane surrounding the heart (pericardium) may occur. This may develop into permanent thickening, with resulting scarring and contracture of the pericardium (constrictive pericarditis).

Inflammation of the membranes lining the lungs (pleuritis) and fluid collection around the lungs (pleural effusion) has also been reported.

Causes

The exact cause of Degos disease is unknown. The disease process causes the cells lining the arteries to multiply, which contributes to the narrowing or blocking of arteries (arterial occlusion). Areas of severely damaged tissue (necrosis) may appear when narrowed or blocked arteries restrict blood flow (occlusive arteriopathy). The effects of Degos disease depend upon the location of the blocked arteries and necrotic lesions.

Many theories have been proposed as to what is the underlying cause of Degos disease. Three main theories include (1) viral infection, (2) defects in the body’s blood clotting ability (primary disorder of coagulation) and (3) autoimmunity, whereby the body’s immune system mistakenly attacks healthy tissue.

Some cases of Degos disease have run in families suggesting a genetic predisposition to the disorder may exist in these cases. The mode of inheritance of this familial variant of Degos disease is unknown. Interestingly, this form of Degos disease is usually limited to the skin (benign cutaneous Degos disease).

Affected Populations

Approximately 200 cases of Degos disease have been reported in the medical literature. The exact incidence of the disorder is unknown. Many researchers believe that Degos disease is under-diagnosed, making it difficult to determine its true frequency in the general population. Degos disease can affect individuals of any age, but is more common in young adults. In the reported cases, males have been affected more often than females. However, one study found that women developed the benign cutaneous form of Degos disease more often than men. .

The disorder was first described in the medical literature in 1941 and recognized as a distinct clinical entity by Dr. Degos in 1942.

Related Disorders

Symptoms of the following disorders may present similarly to those of Degos disease.

Lupus is a chronic, inflammatory autoimmune disorder affecting the connective tissue. In lupus, the organ systems most often involved include the skin, kidneys, blood and joints. Many different symptoms are associated with lupus, and most affected individuals do not experience all of the symptoms. In some cases, lupus may be mild affecting only a few organ systems. In other cases, it may result in serious complications. There are at least three forms of lupus: the classic form, systemic lupus erythematosus; a form that only affects the skin, discoid lupus erythematosus; and drug-induced lupus erythematosus. The term lupus is most often used to denote systemic lupus erythematosus. (For more information on this disorder, choose “lupus” as your search term in the Rare Disease Database.)

Buerger’s disease, also known as thromboangiitis obliterans, is a rare disorder that most commonly affects young or middle-aged males who smoke cigarettes. It is characterized by narrowing or blockage (occlusion) of the veins and arteries of the extremities, resulting in reduced blood flow to these areas (peripheral vascular disease). The legs are affected more often than the arms. In most cases, the first symptom is extreme pain of the lower arms and legs while at rest. Affected individuals may also experience cramping in the legs when they walk, which in rare cases may cause limping (claudication). Affected individuals may have sores (ulcers) on their extremities, they may experience numbness and tingling, a lack of normal blood flow to the fingers and/or toes when exposed to cold temperatures (Raynaud’s phenomenon), and/or inflammation and clotting of certain veins (thrombophlebitis). In severe cases, individuals with Buerger’s disease may exhibit tissue death (gangrene) of affected limbs. The exact cause of Buerger’s disease is not known; however, most affected individuals are heavy tobacco users. (For more information on this disorder, choose “Buerger’s” as your search term in the Rare Disease Database.)

Vasculitis is inflammation of blood vessels. In individuals with vasculitis, inflammation damages the lining of affected blood vessels, causing narrowing, the formation of blood clots (thrombosis), and/or blockage. As a result, there may be restriction of oxygenated blood supply to certain tissues (ischemia), causing pain, tissue damage, and, in some cases, malfunction of the affected organs. Vasculitis may affect veins and arteries of any type or size, may involve a single or multiple organs, and may be a primary disease process or occur in association with an underlying disorder. Therefore, the range and severity of symptoms and findings associated with vasculitis may vary greatly. The specific underlying cause of vasculitis is not fully understood. However, in most cases, it is thought to be due to disturbances of the body’s immune system. (For more information on this disorder, choose “vasculitis” as your search term in the Rare Disease Database.)

Diagnosis

A diagnosis of Degos disease is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings (e.g., skin lesions), and microscopic examination of affected skin tissue that reveal distinctive changes to that tissue. Because most tests are normal, no specific laboratory test can be used to aid in the diagnosis of Degos disease.

Standard Therapies

Treatment

No specific therapy has been identified for Degos disease. Treatment is directed toward the specific symptoms that are apparent in each individual.

In diagnosed cases of Degos disease, examination of the gastrointestinal tract on a regular basis may detect intestinal perforation before symptoms of acute complications (i.e., peritonitis) appear. Some associated complications such as gastrointestinal bleeding or intestinal perforation may require surgical intervention.

Investigational Therapies

Drugs that inhibit the activity of platelets (specialized blood cells that clump together to form clots to stop bleeding at an injury site) have been used to treat individuals with Degos disease. These drugs are known as anti-platelet or anti-coagulation drugs. A combination of two of these drugs (i.e., aspirin and dipyridamole) has been reported to improve skin and eye lesions in two individuals who did not have systemic involvement.

A variety of medications such as those that suppress the body’s immune system (immunosuppressives) have been tried for Degos disease with no positive effect. One case reported in the medical literature demonstrated improvement of skin lesions and gastrointestinal symptoms upon the administration of nicotine patches. Some researchers have advocated the use of intravenous immunoglobulin as a treatment for affected individuals. More research is necessary to determine the long-term safety and effective of such therapies in individuals with Degos disease.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:

Years Published

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